rs7801169 chr7:56093080 A>G

Sequence
gcatggagcccagtctccgggcgg[A/G]aggtgggggacctctggtggaggg
ASB in cell types
gastroesophageal sphincter RH4 (alveolar rhabdomyosarcoma) adrenal gland thoracic aorta
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN CENPA_HUMAN CREB1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 2.31 0.74 3.1·10-361.00 1.44 -1.12 Weak Concordant
RAD21_HUMAN 2.65 2.11 5.8·10-131.00 1.22 n/a n/a
CENPA_HUMAN 3.17 -0.33 0.020.85 1.67 n/a n/a
CREB1_HUMAN 2.17 -2.16 0.041.00 1.00 n/a No Hit
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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